Canonical Allele Identifier: CA438896282
Gene: PPARGC1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.23815846C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.23814223C>T , CM000666.2:g.23814223C>T GRCh38
NC_000004.11:g.23815846C>T , CM000666.1:g.23815846C>T GRCh37
NC_000004.10:g.23424944C>T NCBI36
NG_028250.1:g.80855G>A
NG_028250.2:g.663753G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264867.7:c.1260G>A MANE Select ENSP00000264867.2:p.Gln420=
ENST00000264867.6:c.1260G>A ENSP00000264867.2:p.Gln420=
ENST00000506055.5:c.*475G>A ENSP00000423075.1:n.*475G>A
ENST00000509702.5:n.1300G>A
ENST00000613098.4:c.879G>A ENSP00000481498.1:p.Gln293=
NM_013261.3:c.1260G>A NP_037393.1:p.Gln420=
XM_005248130.2:c.1275G>A XP_005248187.1:p.Gln425=
XM_005248131.3:c.1272G>A XP_005248188.1:p.Gln424=
XM_005248132.1:c.1251G>A XP_005248189.1:p.Gln417=
XM_005248134.3:c.1275G>A XP_005248191.1:p.Gln425=
XM_011513764.1:c.1260G>A XP_011512066.1:p.Gln420=
XM_011513765.1:c.1224G>A XP_011512067.1:p.Gln408=
XM_011513766.1:c.1155G>A XP_011512068.1:p.Gln385=
XM_011513767.1:c.1155G>A XP_011512069.1:p.Gln385=
XM_011513768.1:c.1155G>A XP_011512070.1:p.Gln385=
XM_011513769.1:c.1275G>A XP_011512071.1:p.Gln425=
XM_011513770.1:c.879G>A XP_011512072.1:p.Gln293=
XM_011513771.1:c.879G>A XP_011512073.1:p.Gln293=
NM_001330751.1:c.1275G>A NP_001317680.1:p.Gln425=
NM_001330752.1:c.1224G>A NP_001317681.1:p.Gln408=
NM_001330753.1:c.879G>A NP_001317682.1:p.Gln293=
NM_001354825.1:c.1275G>A NP_001341754.1:p.Gln425=
NM_001354826.1:c.879G>A NP_001341755.1:p.Gln293=
NM_001354827.1:c.1275G>A NP_001341756.1:p.Gln425=
NM_013261.4:c.1260G>A NP_037393.1:p.Gln420=
NR_148981.1:n.1787G>A
NR_148982.1:n.1860G>A
NR_148983.1:n.2013G>A
NR_148984.1:n.1411G>A
NR_148985.1:n.1925G>A
NR_148986.1:n.1930G>A
NR_148987.1:n.2012G>A
XM_005248131.5:c.1272G>A XP_005248188.1:p.Gln424=
XM_005248134.4:c.1275G>A XP_005248191.1:p.Gln425=
XM_011513769.2:c.1275G>A XP_011512071.1:p.Gln425=
XM_024453878.1:c.1275G>A XP_024309646.1:p.Gln425=
NM_013261.5:c.1260G>A MANE Select NP_037393.1:p.Gln420=
NM_001330751.2:c.1275G>A NP_001317680.1:p.Gln425=
NM_001330752.2:c.1224G>A NP_001317681.1:p.Gln408=
NM_001354825.2:c.1275G>A NP_001341754.1:p.Gln425=
NM_001354826.2:c.879G>A NP_001341755.1:p.Gln293=
NM_001354827.2:c.1275G>A NP_001341756.1:p.Gln425=
NR_148981.2:n.1863G>A
NR_148982.2:n.1936G>A
NR_148983.2:n.2089G>A
NR_148984.2:n.1381G>A
NR_148985.2:n.2001G>A
NR_148986.2:n.2006G>A
NR_148987.2:n.2088G>A
NM_001330753.2:c.879G>A NP_001317682.1:p.Gln293=